biostudies-literatureUnknown30(6)Zhou SAsthenozoospermia (AZS) is a common male infertility phenotype, accounting for 18% of infertile patients. The N-DRC (Nexin-dynein Regulatory Complex) complex is the motor regulating device in the flagellum, which is found in most eukaryotic organisms with flagellum. The deletion of TCTE1 (T-Complex-Associated Testis-Expressed 1), a component of the N-DRC complex also known as DRC5 (Dynein regulatory complex subunit 5), has been shown to cause asthenospermia in mice. This study mainly introduces a clinical case of male infertility with normal sperm count, normal morphological structure, but low motility and weak forward movement. By whole-exome sequencing, we found that TCTE1 became a frameshift mutant, ENST00000371505.5: c.396_397insTC (p.Arg133Serfs*33), resulting in the rapid degradationEuropean journal of human genetics : EJHG721-729https://www.ebi.ac.uk/biostudies/studies/S-EPMC9177828biostudies-literatureBi-allelic variants in human TCTE1/DRC5 cause asthenospermia and male infertility.PMC9177828Zhang JZhou PLiu MZhou SHe XCao YLiu SHua RWu HfalseBi-allelic variants in human TCTE1/DRC5 cause asthenospermia and male infertility.Asthenozoospermia (AZS) is a common male infertility phenotype, accounting for 18% of infertile patients. The N-DRC (Nexin-dynein Regulatory Complex) complex is the motor regulating device in the flagellum, which is found in most eukaryotic organisms with flagellum. The deletion of TCTE1 (T-Complex-Associated Testis-Expressed 1), a component of the N-DRC complex also known as DRC5 (Dynein regulatory complex subunit 5), has been shown to cause asthenospermia in mice. This study mainly introduces a clinical case of male infertility with normal sperm count, normal morphological structure, but low motility and weak forward movement. By whole-exome sequencing, we found that TCTE1 became a frameshift mutant, ENST00000371505.5: c.396_397insTC (p.Arg133Serfs*33), resulting in the rapid degradation2022-01-01T00:00:00Z2022 Jun2025-04-19T08:08:58.608Z2025-04-19T08:08:58.608ZS-EPMC91778283538818710.1038/s41431-022-01095-w